About Central nervous system calcification-deafness-tubular acidosis-anemia syndrome

What is Central nervous system calcification-deafness-tubular acidosis-anemia syndrome?

Central nervous system calcification-deafness-tubular acidosis-anemia syndrome (CDA-TATAS) is a rare genetic disorder characterized by progressive calcification of the brain, hearing loss, tubular acidosis, and anemia. It is caused by mutations in the SLC4A4 gene, which is responsible for the production of a protein called AE2. This protein is involved in the regulation of sodium and bicarbonate transport in the kidneys and other organs. Symptoms of CDA-TATAS typically begin in infancy and include developmental delay, seizures, hearing loss, and failure to thrive. Treatment is supportive and may include hearing aids, anticonvulsants, and dietary modifications.

What are the symptoms of Central nervous system calcification-deafness-tubular acidosis-anemia syndrome?

The symptoms of Central nervous system calcification-deafness-tubular acidosis-anemia syndrome (CDFTA) vary from person to person, but may include:

-Hearing loss

-Developmental delay

-Seizures

-Intellectual disability

-Movement disorders

-Growth retardation

-Abnormal facial features

-Abnormalities of the eyes, including cataracts

-Abnormalities of the teeth

-Abnormalities of the heart

-Abnormalities of the kidneys

-Abnormalities of the bones

-Abnormalities of the blood, including anemia

-Abnormalities of the skin, including dryness and scaling

-Abnormalities of the gastrointestinal tract, including constipation and diarrhea

What are the causes of Central nervous system calcification-deafness-tubular acidosis-anemia syndrome?

Central nervous system calcification-deafness-tubular acidosis-anemia syndrome is a rare genetic disorder caused by mutations in the SLC4A4 gene. This gene provides instructions for making a protein called sodium bicarbonate cotransporter 4 (NBC4). This protein helps regulate the balance of sodium and bicarbonate in cells, which is important for maintaining the proper acid-base balance in the body. Mutations in the SLC4A4 gene lead to a decrease in NBC4 protein, which disrupts the balance of sodium and bicarbonate in cells. This disruption can cause a buildup of calcium in the brain, leading to calcification of the central nervous system, as well as deafness, tubular acidosis, and anemia.

What are the treatments for Central nervous system calcification-deafness-tubular acidosis-anemia syndrome?

1. Medication: Corticosteroids, anticonvulsants, and immunosuppressants may be prescribed to reduce inflammation and control seizures.

2. Physical Therapy: Physical therapy can help improve muscle strength and coordination.

3. Surgery: Surgery may be necessary to remove calcifications in the brain or spinal cord.

4. Dietary Changes: A low-sodium diet may be recommended to help reduce the risk of kidney stones.

5. Vitamin Supplements: Vitamin B12 and folate supplements may be recommended to treat anemia.

6. Hearing Aids: Hearing aids may be necessary to improve hearing.

What are the risk factors for Central nervous system calcification-deafness-tubular acidosis-anemia syndrome?

1. Genetic mutation: A mutation in the SLC4A4 gene is the cause of Central nervous system calcification-deafness-tubular acidosis-anemia syndrome.

2. Family history: A family history of the disorder increases the risk of developing Central nervous system calcification-deafness-tubular acidosis-anemia syndrome.

3. Age: The disorder is more common in children and young adults.

4. Gender: Central nervous system calcification-deafness-tubular acidosis-anemia syndrome is more common in males than females.

5. Ethnicity: The disorder is more common in individuals of African descent.

Is there a cure/medications for Central nervous system calcification-deafness-tubular acidosis-anemia syndrome?

Unfortunately, there is no known cure for Central nervous system calcification-deafness-tubular acidosis-anemia syndrome. However, there are medications that can help manage the symptoms of the syndrome. These include medications to treat hearing loss, medications to treat anemia, and medications to treat tubular acidosis. Additionally, physical and occupational therapy can help improve the quality of life for those with the syndrome.